When Your Child Has a Rare Medical Condition Doctors Can't Diagnose

Every year, around 6,000 children are born in the UK with complex genetic conditions that cannot be diagnosed. Two moms tell us what it's like to raise kids who suffer from a syndrome without a name (SWAN).

Hana Young had a pretty normal, uneventful pregnancy, and despite losing a lot of blood during the birth, the 27 year old from Hampshire, UK, delivered a healthy daughter called Tilly.

During the first year of her daughter's life, Young realized that her child wasn't hitting her regular growth milestones. Tilly wasn't able to sit up or roll over, and she wasn't growing properly. "Tilly just wasn't doing what my friends' babies were doing," she explains. "I would tell the doctor that something was wrong with my baby, but would be told there wasn't, and other moms would say that I was being a 'neurotic first-time mom'. The worst thing I heard was that I should find 'something real' to worry about."

In fact, Young's maternal instincts were right. Tilly, now five, is completely non-verbal, has no reflexes, is doubly incontinent, and has several seizures a day. Though she can walk, she needs a wheelchair for long distances. "She's basically a ten month old in a five year old's body," Young says.

You would expect Tilly to have a clear diagnosis for her symptoms, but doctors remain puzzled. She is one of the estimated 6,000 children born in the UK every year suffering from a syndrome without a name, or SWAN for short. SWAN is not a medical condition in itself; instead, it is a term given to people whose genetic conditions are so rare they are seemingly impossible to diagnose.

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"The thing about your child being undiagnosed is that you don't have any answers—the future is unknown. With a lot of disabilities, you don't necessarily know what will happen, but you get a better picture, whereas with no diagnosis you worry about things like progression," says Laura Rutherford, 33, from Falkirk, Scotland. Like Tilly, her son Brody is a five-year-old SWAN child who needs round-the-clock care. As with Young, Rutherford's pregnancy was fine, but she only realized that something was wrong when her son wasn't developing within the usual time frame.

Both mothers were told by doctors that their kids had global development delay (GDD)—a catch-all term that describes children who take significantly longer to reach cognitive and physical milestones, like learning to walk or talk. "Putting everybody in the same basket is really unhelpful and can stop medics from searching for a diagnosis," says Dr. Larissa Kerecuk, the Rare Disease Lead at Birmingham Children's Hospital. "We don't know the underlying mechanism for these conditions, but it's only now that we have started to unravel the genetic code and started to move away from the GDD blank diagnosis."

Kerecuk also leads the 100,000 Genomes Project, which has been running for two years and aims to sequence the genomes of people with rare diseases and those of their families. So far, her team has recruited 2,800 SWAN patients as test subjects, as well as those with diagnosed genetic conditions who are under the care of Birmingham Children's Hospital. (Birmingham Children's Hospital also runs the first clinic for SWAN children in the UK.)

"This has really helped raise awareness of children without a diagnosis—and our aim is to get them diagnosed through this, when before it wasn't seen as possible so people didn't really go there," Kerecuk says.

Both Young and Rutherford's children are part of the 100,000 Genomes Project, but nothing has shown up for them as of yet. The project aims to sequence thousands of genomes, and has covered just over 34,000 at the time of writing. For those who take part, having their genomes looked at in such minute detail can help medical professionals diagnose them, or at the very least find treatment tailored to their needs.

As Kerecuk puts it, lacking a diagnosis for your child can be "really isolating."

Hana Young with her daughter Tilly. Photo courtesy of Hana Young

"People can not believe you, you can't get a disability living allowance, it can be a struggle to find support. Doctors can also disbelieve the parents—but as I tell my junior doctors, we may be experts in conditions, but these families are experts in their children and we have to take them seriously," she explains.

Various studies have shown that underlying gender bias can mean that medical professionals don't listen to women when they raise concerns about their health. Young believes that the same applies to mothers when they express concern about their children. There's a "lot of sexism in it," she claims.

"Women are seen as neurotic—but I found female doctors much better to talk to because they actually listened," she says.

Young was only 24 when her partner walked out on her and their two children, leaving her to provide full-time care for Tilly on her own. (Their son Arlo, two, is healthy.) At the tie, she thought her "world had ended."

"But I had to get on with it for her, really. I had to fight doctors all the time, and that made me grow up and take it all on—she's made my life much more for being how she is," she says. "I won't stop fighting for a diagnosis—not just for Tilly, but for our family."

One of the things Young finds most difficult is the behavior of strangers towards her daughter. "I get bad reactions from them all the time, I'm quite outspoken so I will say something," she says. "People will say things like 'isn't it a shame' and 'she just needs a smack' when she's having a meltdown in public, or stare at her. Having a diagnosis would make things easier in this regard."

Laura Rutherford with Brody. Photo courtesy of Laura Rutherford

Young and Rutherford have also been helped by the charity SWAN UK, which organizes support groups and events. "It's made me realize that there's a tribe of people like me, which you can't beat in an isolating situation," Rutherford says.

The reality of caring for a SWAN child is a world away from that of a mom with healthy and able-bodied kids, she adds.

"I always wanted to be a stay-at-home mum, and it sounds awful to say that this wasn't what I expected, but that's because you have to adjust to a new normal," explains Rutherford, who now runs a blog and has campaigned for bigger nappies for children with disabilities and better access to toilets with changing facilities. "When you're pregnant you envisage all of the mainstream typical things that you can do with your child—go to the park, go swimming, jump in puddles—and when your child is disabled you might not be able to do these things, or they're different to what you expected. You also start to wear a carer badge along with your mom one, even though you're just doing what every mother would do—looking after and loving your child, no matter what.

"But you just have to try and focus on the here and now, enjoy all of the good moments—of which there are many—and keep swimming. Our kids are unique and perfectly imperfect, and although this isn't parenthood as I expected it, I wouldn't change a single hair on Brody's head."